Linked Data
ClinVar Variation Id:
1092192
ClinVar RCV Id:
RCV001411950
dbSNP Id:
rs763529206
ExAC:
2:217280189 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216415466C>T , CM000664.2:g.216415466C>T | GRCh38 |
| NC_000002.11:g.217280189C>T , CM000664.1:g.217280189C>T | GRCh37 |
| NC_000002.10:g.216988434C>T | NCBI36 |
| NG_009771.1:g.8053C>T , LRG_108:g.8053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.762C>T | ENSP00000394410.2:p.Tyr254= | |
| ENST00000430374.6:c.762C>T | ENSP00000405077.2:p.Tyr254= | |
| ENST00000444508.6:c.762C>T | ENSP00000398969.2:p.Tyr254= | |
| ENST00000697898.1:n.1123C>T | ||
| ENST00000697899.1:c.762C>T | ENSP00000513470.1:p.Tyr254= | |
| ENST00000697900.1:n.1038C>T | ||
| ENST00000697901.1:c.762C>T | ENSP00000513471.1:p.Tyr254= | |
| ENST00000697902.1:n.994C>T | ||
| ENST00000697903.1:c.762C>T | ENSP00000513472.1:p.Tyr254= | |
| ENST00000697904.1:c.762C>T | ENSP00000513473.1:p.Tyr254= | |
| ENST00000697905.1:c.762C>T | ENSP00000513474.1:p.Tyr254= | |
| ENST00000697906.1:c.762C>T | ENSP00000513475.1:p.Tyr254= | |
| ENST00000697907.1:c.762C>T | ENSP00000513476.1:p.Tyr254= | |
| ENST00000357276.9:c.762C>T MANE Select | ENSP00000349823.4:p.Tyr254= | |
| ENST00000357276.8:c.762C>T | ENSP00000349823.4:p.Tyr254= | |
| ENST00000358207.9:c.762C>T | ENSP00000350940.5:p.Tyr254= | |
| ENST00000392128.6:c.354C>T | ENSP00000375974.2:p.Tyr118= | |
| ENST00000427645.5:c.459C>T | ENSP00000392997.1:p.Tyr153= | |
| NM_001127207.1:c.762C>T | NP_001120679.1:p.Tyr254= | |
| NM_014140.3:c.762C>T , LRG_108t1:c.762C>T | NP_054859.2:p.Tyr254= | |
| XM_005246631.2:c.762C>T | XP_005246688.1:p.Tyr254= | |
| XM_005246632.1:c.762C>T | XP_005246689.1:p.Tyr254= | |
| XM_006712557.1:c.762C>T | XP_006712620.1:p.Tyr254= | |
| XM_005246632.2:c.762C>T | XP_005246689.1:p.Tyr254= | |
| XM_017004228.2:c.-155C>T | XP_016859717.1:n.-155C>T | |
| NM_001127207.2:c.762C>T | NP_001120679.1:p.Tyr254= | |
| NM_014140.4:c.762C>T MANE Select | NP_054859.2:p.Tyr254= |